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Meet Amelia

When Amelia was born her parents knew there was instantly something wrong. She had difficult breathing, there was a hole in her heart, she had issues with her blood sugar and platelet count - says her mum Elissa.

"They just kept telling us there was something wrong, and they didn't know what it was. So, it was a bit of a roller coaster,’’ says mum Elissa.

Genetic testing was done and months later it was discovered that Amelia had Kabuki Syndrome. In this rare congenital disorder, the children’s facial features are similar to a Japanese Kabuki mask and most have intellectual disability and developmental issues.

Amelia has done extensive physiotherapy, speech therapy and occupational therapy to help her walk and talk, as well as wearing leg braces. She wears leg braces to help with her low muscle tone and dislocating knees.

Dr Mark Graham at Children's Medical Research Institute was part of a recent research project looking at the underlying mechanisms of neurological conditions, which is improving outcomes for children with Kabuki Syndrome.

“I mean, all the other kids welcome her with open arms, but you can definitely tell there's a big difference between her and kids her age,’’ dad Peter said.

“By supporting the campaign, you're going to be changing people's lives. It's not just about Amelia.

You know, there's so many kids that are affected by genetic syndrome, and they all deserve to live a fulfilling, happy life, and the only way that's going to happen is if there's some research to find out what we can and make a bit of a difference,’’ says mum Elissa.

Your double donation will help find cures for children like Amelia, for the 1 in 20 kids who face a birth defect or genetic disease. Thank you.

Donate today to double your impact to help families like Amelia's.